P19S (p.Pro19Ser) variant of KCNJ5 (P48544)
P19S (p.Pro19Ser) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs746793322
- ClinGen CA6357812
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.65
- CADD 0.90
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available